https://www.wsj.com/articles/genomic-science-kept-my-boys-from-going-blind-11575063112?mod=opinion_lead_pos6
Nine years ago, my family attended a medical conference in Philadelphia for the genetically unblessed. My husband, Eddie, and I found kinship with the other parents there, born of shared purpose: We refused to accept the diagnosis that our child was going blind.
Not long after we brought my newborn son, Anthony, home from the hospital, we noticed his eyes kept darting to the nearest light. If left in a room alone, he couldn’t self-soothe unless we placed him beside a sunlit window out of which he would obsessively gaze. He was eventually diagnosed with Leber congenital amaurosis, or LCA, a rare retinal disease affecting one out of every 50,000 newborns.
If you think of your eye as a camera, LCA isn’t a problem with the lens; the camera itself is broken. The eye cannot properly transmit light and color to the brain. For Anthony, it was like viewing the world permanently through a pair of sunglasses. It was only a matter of time, the doctors agreed, before the lights went out completely.
In 2010 we had learned about promising animal research that was about to move into human clinical trials. At the conference we watched a presentation describing how scientists were injecting modified DNA into the eyes of dogs with LCA, stopping their vision loss. However, that research applied to only 8% of the patient population—those who had the RPE65 gene type.
We gathered in a breakout session with about 50 other parents after the presentation. A nice guy from a drug company went around the room, family by family, and chatted with us. Of all the LCA patients, he found only two kids with the lucky number 65 gene. One of them was ours.